NM_024685.4:c.271dup

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HGVS Expressions

  • NG_016357.1:g.5729dup
  • NM_024685.4:c.271dup
  • NP_078961.3:p.Cys91fs

Associated Genes

BBS10 Gene
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Genomic Location

chr12:76347716

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Duplication

dbSNP

549625604

Clinvar

1328

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615987.G.1Oman4+PathogenicBardet-Biedl Syndrome 10White et al. 2007 Unknown number of affected individuals f...
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Contributors

  • Sayeeda Hana: 12.04.2020

Edit History

  • Sayeeda Hana: 27.09.2020
  • Sayeeda Hana: 14.04.2020
  • Sayeeda Hana: 12.04.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.